Endocrine最新文献

{"title":"Association between different response patterns during oral glucose tolerance test and postpartum glucose intolerance in women with gestational diabetes.","authors":"Jianing Bi, Li Zhang, Jing Peng, Yunshu Yang, Jing Jin, Qing Liu, Gaojie Fan, Qing Fang, Youjie Wang, Lulu Song, Guocheng Liu","doi":"10.1007/s12020-025-04327-3","DOIUrl":"10.1007/s12020-025-04327-3","url":null,"abstract":"<p><strong>Purpose: </strong>Our study aimed to assess the associations of the response patterns during gestational oral glucose tolerance test (OGTT) with postpartum glucose intolerance (PGI) in women with gestational diabetes mellitus (GDM).</p><p><strong>Methods: </strong>This cohort study included 5348 GDM women who underwent the OGTT both 24-28 weeks during pregnancy and 4-12 weeks postpartum from January 2017 to June 2022. Gestational OGTT response patterns included individual time-point glucose values, glucose response trajectories, and GDM subtypes. PGI was defined as women with postpartum pre-diabetes or diabetes. Cox proportional hazards regression models were used to assess the risks of PGI according to different response patterns.</p><p><strong>Results: </strong>During a median follow-up of 6.3 weeks post-delivery, 1727 (32.3%) women had PGI. Each time-point OGTT glucose were positively associated with PGI. Four OGTT glucose trajectories were fitted: 515 (9.6%) moderate increase following decrease, 557 (10.4%) sustained low-level increase, 3918 (73.3%) moderate increase following slow decrease, and 358 (6.7%) rapid increase following slow decrease. Compared with women with glucose moderate increase following decrease, those with rapid increase following slow decrease had the highest risk of PGI, followed by those with moderate increase following slow decrease. For GDM subtypes, 442 (8.3%) were isolated fasting hyperglycemia (IFH), 4227 (79.0%) were isolated post-load hyperglycemia (IPH), and 679 (12.7%) were combined hyperglycemia (CH). Compared with women with IFH, CH indicated the highest risk of PGI, followed by IPH.</p><p><strong>Conclusions: </strong>Our findings indicate that distinct OGTT response patterns are associated with varying risks of PGI in women with GDM.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"31-38"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrating ocular and clinical features to enhance intravenous glucocorticoid response prediction in thyroid eye disease: a machine learning approach.","authors":"Chen Zhao, Chaoyu Lei, Shilong Pei, Yujie Ren, Xuran Duan, Songtao Guo, Xuefei Song, Hui Wang, Huifang Zhou","doi":"10.1007/s12020-025-04300-0","DOIUrl":"10.1007/s12020-025-04300-0","url":null,"abstract":"<p><strong>Purposes: </strong>Predicting intravenous glucocorticoid (IVGC) efficacy in thyroid eye disease (TED) is vital for personalized treatment and minimizing side effects. Current methods haven't fully utilized ocular features. This study aims to integrate ocular features into predictive model to assess their impact on improving IVGC efficacy prediction.</p><p><strong>Methods: </strong>This retrospective study recruited 130 TED patients who received 4.5 g of IVGC treatment and collected their clinical features. After Least Absolute Shrinkage and Selection Operator (LASSO) regression for feature selection, two key features, lid aperture and CAS, were identified and incorporated into a predictive model. Subsequently, five ocular features were added, resulting in a model using both clinical and ocular features. Six machine learning classifiers were tested on both models, and the performances of two models were compared. The best-performing predictive model was analyzed using SHapley Additive exPlanations (SHAP) to interpret the model.</p><p><strong>Results: </strong>In the LASSO regression, CAS and lid aperture were selected as key features for predicting IVGC efficacy. In the model using only clinical features, the best-performing classifier was Logistic Regression, with an AUC of 0.701. However, when ocular features were incorporated, the XGBoost classifier outperformed all others, with the AUC improving to 0.821. SHAP analysis further indicated that conjunctival edema was the most important feature for prediction.</p><p><strong>Conclusions: </strong>This study identified features associated with the prediction of IVGC efficacy and demonstrated that incorporating ocular features into clinical parameters improves the ability to predict treatment outcomes. Additionally, SHAP analysis highlighted the importance of ocular features in predicting treatment efficacy, providing a basis for further mechanistic exploration.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"188-198"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144477493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Knowledge, attitudes, and practices of healthcare professionals regarding medical nutrition therapy for type 2 diabetes: a multicenter cross-sectional study.","authors":"Xiaohong Xu, Juan Yuan, Man Zhan, Xue Li, Jie Peng, Wei Lu, Liangshu Wu, Chang Zheng, Lingfang Tian","doi":"10.1007/s12020-025-04320-w","DOIUrl":"10.1007/s12020-025-04320-w","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to evaluate healthcare professionals' knowledge, attitudes, and practices (KAP) concerning medical nutrition therapy (MNT) for type 2 diabetes.</p><p><strong>Methods: </strong>A multicenter, cross-sectional study was conducted between September and October 2024 across hospitals of various levels in Guiyang City, China. Participants included healthcare professionals who voluntarily agreed to take part in the study. We included healthcare professionals from the entire hospital system to capture a broad perspective on the knowledge, attitudes, and practices towards MNT for type 2 diabetes, reflecting the multidisciplinary nature of diabetes care. Data on demographic characteristics and KAP scores were collected using a self-administered questionnaire.</p><p><strong>Results: </strong>A total of 1348 (90.77%) valid questionnaires were analyzed. Of the respondents, 1254 (93.03%) were female, 491 (36.42%) had 5-10 years of work experience, and 700 (51.93%) were actively engaged in the care and nutritional management of patients with type 2 diabetes. The mean ± SD knowledge, attitude, and practice scores were 14.18 ± 4.80 (possible range: 0-20), 36.73 ± 3.67 (possible range: 9-45), and 27.13 ± 5.27 (possible range: 7-35), respectively. Structural equation modeling show that knowledge has had specific effects on attitudes (β = 0.464, P < 0.001) and practice (β = 0.681, P < 0.001), as well as attitudes had a specific effect on practice (β = 0.491, P < 0.001).</p><p><strong>Conclusion: </strong>Healthcare professionals demonstrated suboptimal knowledge but maintained positive attitudes and proactive practices regarding MNT for type 2 diabetes. Targeted educational programs should be developed to enhance healthcare professionals' knowledge, as this could further strengthen their attitudes and practices, ultimately improving patient outcomes in MNT for type 2 diabetes.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"76-84"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144340548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Therapeutic plasmapheresis in the management of thyrotoxicosis: a-retrospective study with emphasis on critically ill patients.","authors":"Ummu Mutlu, Fatih Bektas, Senem Dadin, Hulya Hacisahinogullari, Yalin Iscan, Gulsah Yenidunya Yalin, Nurdan Gul, Ozlem Soyluk Selcukbiricik, Sevgi Kalayoglu Besisik, Ayse Kubat Uzum","doi":"10.1007/s12020-025-04314-8","DOIUrl":"10.1007/s12020-025-04314-8","url":null,"abstract":"<p><strong>Purpose: </strong>Severe thyrotoxicosis is a life-threatening condition. Therapeutic plasma exchange (TPE) can rapidly reduce elevated thyroid hormone levels and serves as an alternative treatment option, particularly in cases like thyroid storm, where achieving euthyroid status is critical. We evaluated our experience regarding the efficacy and safety of TPE in patients with thyrotoxicosis where antithyroid drugs cannot be utilized due to side effects or fail to work.</p><p><strong>Methods: </strong>A retrospective cohort study evaluated adult patients who underwent TPE due to thyrotoxicosis between 2015-2024. Causes of thyrotoxicosis, TPE indications, complications, changes in thyroid hormones, and post-TPE treatments were noted.</p><p><strong>Results: </strong>Twenty-two patients were included. The median age was 50 years (32-60). 51.9% were female. The most common cause of thyrotoxicosis was Graves' disease. Indications for TPE included side effects from ATD, emergency non-thyroid surgery, thyroid storm, and molar pregnancies. The median number of TPE sessions was 2.5 (2-3). Albumin was used as the replacement fluid for most patients. After TPE, free T4 and free T3 decreased by 43 and 64.1%, respectively. Prolongation of prothrombin time was common; however, bleeding occurred in only one patient. After TPE, 10 patients underwent surgery, and 3 received RAI. ATD treatment continued in 9 patients.</p><p><strong>Conclusion: </strong>Our study is among the largest series in the literature. Consistent with existing literature, it has been demonstrated that TPE was reliable and effective in establishing rapid and effective euthyroid state not only in cases of antithyroid drug side effects, ineffectiveness, and thyroid storm but also before non-thyroidal emergency surgeries.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"157-165"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144286966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of diabetes mellitus and social isolation with loneliness among older Japanese adults: a cross-sectional study.","authors":"Takahiro Shimoda, Kouki Tomida, Chika Nakajima, Ayuka Kawakami, Hiroyuki Shimada","doi":"10.1007/s12020-025-04348-y","DOIUrl":"10.1007/s12020-025-04348-y","url":null,"abstract":"<p><strong>Purpose: </strong>To clarify whether the combination of diabetes mellitus (DM) and social isolation is associated with loneliness among community-dwelling older adults.</p><p><strong>Methods: </strong>Data of community-dwelling older adults aged 60 years and older without initial long-term care needs from the Japanese National Center for Geriatrics and Gerontology Study of Geriatric Syndromes were analyzed. Loneliness was measured using the University of California Los Angeles Loneliness Scale. Social isolation was assessed based on four categories: lack of conversation, lack of passive support, lack of support provided to others, and lack of social participation. DM status was determined by assessing patients' medical histories. Modified Poisson regression models were employed to assess relationships between DM, social isolation, and loneliness, including interactions according to sex.</p><p><strong>Results: </strong>Data from 5876 participants (54.2% women) aged 68-77 years were included. The prevalence rates of loneliness, social isolation, and DM were 35.9%, 46.5%, and 13.1%, respectively. Among women, DM and social isolation were associated with loneliness (DM, prevalence ratio [PR]: 1.35, 95% confidence interval [CI]: 1.02-1.78; social isolation, PR: 1.98, 95% CI: 1.33-2.94). Among men, only social isolation was associated with loneliness (PR: 1.41, 95% CI: 1.09-1.84). No interaction was observed between DM and social isolation for either sex.</p><p><strong>Conclusions: </strong>Social isolation was associated with loneliness in men and women. DM was associated in women but not in men. The findings of this study may help develop strategies to maintain the mental health of older adults.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"133-139"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610139","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Current status, perceptions, and barriers regarding weight loss approaches in China.","authors":"Ziwei Lin, Hao Zhu, Si Si, Jiawei Xu, Esther Artime, Swarna Khare, Victoria Higgins, Andrea Leith, Yan Bi","doi":"10.1007/s12020-025-04315-7","DOIUrl":"10.1007/s12020-025-04315-7","url":null,"abstract":"<p><strong>Purpose: </strong>To describe management and barriers regarding weight loss in China.</p><p><strong>Materials and methods: </strong>Data were from the Adelphi Real World Obesity Disease Specific Programme™, a cross-sectional survey between April and July 2022 in Chinese clinical practice. Physicians managing people with obesity or overweight (PwO) and PwO aged ≥ 18 years, under weight management programs, and/or with a body mass index ≥ 28 kg/m² were eligible.</p><p><strong>Results: </strong>100 physicians and 801 PwO were included. Before current clinical management, PwO had attempted self-management using their own diet (87%) and exercise (84%) programs, natural remedies/diet pills sold on the internet (26%) or over the counter diet pills (19%). Physicians reported that typical first-line weight management methods in clinical practice were diet (82%) and exercise (82%), with half (50%) using drug approaches. Only 19% of PwO reported full compliance with diet and exercise programs. Among the 78 physicians who used anti-obesity medications (AOMs), the single most important reason for initiating AOM was failure to reach the desired weight loss with diet and exercise alone (58%). Of the 78 physicians, 67% felt that most weight loss approaches always fail and 73% felt that AOM options were restricted; the top rated single most desired improvements in future AOMs were improved or greater efficacy (26%) and safer long-term use (26%). Of PwO, most (88%) had some willingness to try a new AOM.</p><p><strong>Conclusion: </strong>PwO usually self-managed initial weight loss attempts. Physicians typically initiated lifestyle interventions as first-line treatment despite low PwO compliance. Both physicians and PwO desired improved AOMs. Of note, no approved prescription-only AOMs were available in China during the time window of the study.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"112-121"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12464005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144545783","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Factors influencing the initial glycemic efficacy of dorzagliatin, a novel glucokinase activator, in type 2 diabetes.","authors":"Lijiao Chen, Jing Zhang, Xuelu Zhao, Song Wen, Ying Wang, Ligang Zhou","doi":"10.1007/s12020-025-04325-5","DOIUrl":"10.1007/s12020-025-04325-5","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the potential factors influencing blood glucose levels in patients with type 2 diabetes (T2DM) during the initial administration of dorzagliatin.</p><p><strong>Methods: </strong>In this study, we enrolled 173 hospitalized patients diagnosed with T2DM who received dorzagliatin treatment. The mean fasting blood glucose (MFBG) and mean postprandial blood glucose (MPBG) were determined by recording the fasting and 2-h postprandial blood glucose for three consecutive days following dorzagliatin administration. Comprehensive data were collected, including demographic characteristics, anthropometric measurements, metabolic profiles, organ function parameters, and detailed information on glucose-lowering medications. Multiple linear regression analysis was utilized to identify independent predictors of MFBG and MPBG.</p><p><strong>Results: </strong>MFBG in T2DM patients treated with dorzagliatin was positively correlated with the duration of diabetes (β = 0.241, P = 0.002), baseline fasting plasma glucose (FPG) (β = 0.198, P = 0.010), and total cholesterol (TC) (β = 0.166, P = 0.036). MPBG was negatively associated with metformin use (β = -0.286, P = 0.012), and the risk of hypoglycemia was also associated with metformin use (OR = 4.25, P = 0.021) rather than insulin or other antidiabetic agents. In addition, MPBG was positively related to the duration of diabetes (β = 0.204, P = 0.008), and aspartate aminotransferase (AST) (β = 0.186, P = 0.008).</p><p><strong>Conclusion: </strong>Blood glucose levels of T2DM patients during dorzagliatin initial treatment are positively correlated with diabetes duration, suggesting greater efficacy of dorzagliatin in patients with shorter disease duration. Metformin may enhance the glucose-lowering efficacy of dorzagliatin but also increase the risk of hypoglycemia. Furthermore, factors like baseline FPG, TC and AST also influence outcomes.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"85-94"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144486774","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prediction of remission and recurrence of Cushing's disease following transsphenoidal surgery (TSS): a single center, 20-year, retrospective series.","authors":"Dana Bar Natan, Merav Serebro, Zvi Ram, Rachel Grossman, Naomi Even Zohar, Yael Sofer, Iris Yaish, Yona Greenman, Karen Tordjman","doi":"10.1007/s12020-025-04304-w","DOIUrl":"10.1007/s12020-025-04304-w","url":null,"abstract":"<p><strong>Purpose: </strong>Cushing's disease (CD) is a rare condition with variable surgical outcomes. This study aimed to assess remission and recurrence rates in CD patients undergoing transsphenoidal surgery (TSS) at a major Israeli referral center, and to identify predictive factors for these outcomes. We hypothesized that microadenomas would have higher remission rates than macroadenomas.</p><p><strong>Methods: </strong>This retrospective analysis included 97 CD patients who underwent TSS at Tel Aviv Sourasky Medical Center (2002-2022). Remission was defined by biochemical criteria and clinical improvement. Suspected recurrence was confirmed by pathological dexamethasone suppression and/or elevated urinary free cortisol. Univariate and multivariate analyses identified predictors of remission, while Kaplan-Meier survival analysis and Cox proportional hazard modeling determined factors associated with recurrence.</p><p><strong>Results: </strong>The overall remission rate was 63.9%, with no significant difference between microadenomas (58.7%) and macroadenomas (73.5%), a finding confirmed in a sensitivity analysis limited to cases with pathologically confirmed adenomas. Multivariate logistic regression showed predictors of remission were adenoma presence in pathology specimens (OR = 31.25, P < 0.001) and first-time surgery status (OR = 9.42, P = 0.002), while younger age was a contributory factor (OR = 0.963, P = 0.05). The relapse rate was 22.6% over a median follow-up of 63 [IQR 35-109.5] months. Glucocorticoid withdrawal syndrome emerged as a novel protective factor against recurrence (P = 0.045).</p><p><strong>Conclusions: </strong>This largest analysis of TSS outcomes for CD in Israel challenges established notions about remission predictors, including our initial hypothesis about microadenomas. The identification of glucocorticoid withdrawal syndrome as a predictor of long-term remission provides a potential avenue for post-operative monitoring in the local healthcare context.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"256-265"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of dual-release hydrocortisone on disease control and metabolism in congenital adrenal hyperplasia: a retrospective cohort study.","authors":"Pierluigi Mazzeo, Irene Tizianel, Chiara Sabbadin, Giacomo Voltan, Giorgia Antonelli, Filippo Ceccato, Mattia Barbot","doi":"10.1007/s12020-025-04328-2","DOIUrl":"10.1007/s12020-025-04328-2","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired cortisol secretion and excess androgen production. The primary treatment for CAH is glucocorticoid (GC) replacement, which is essential to prevent adrenal crises and manage androgen excess. Dual-release hydrocortisone (DR-HC) is a once-daily modified-release formulation of hydrocortisone approved for adrenal insufficiency, which showed to improve the metabolic profile and reduce cardiovascular risk compared to conventional GCs. However, data on its use in CAH patients are scant.</p><p><strong>Aim: </strong>To retrospectively evaluate clinical, metabolic, and hormonal characteristics of CAH patients switched from conventional GC treatment to DR-HC.</p><p><strong>Patients and method: </strong>This retrospective study involved 17 patients (10 males and 7 females) with classic CAH due to 21-OH-hydroxilase deficiency, who were switched to DR-HC. Clinical, metabolic, and hormonal data were assessed at baseline, at six months, and at the last available visit.</p><p><strong>Results: </strong>Patients showed a tendency to a worse hormonal control, despite an overall increase in daily hydrocortisone equivalent dose; in fact, we observed a trend of increase in androstenedione and 17-OHP levels and a significant deterioration in androstenedione to total testosterone ratio in male (1.37 vs 2.10, p = 0.04); additionally, there was a decrease in the proportion of patients with good disease control [5/17 (29%) vs 1/17 (6%) at last available visit, p = 0.07]. Notably, compared to prior conventional GC regimens total and LDL-c cholesterol levels significantly improved (respectively 178 mg/dL vs 156 mg/dL, p = 0.015 and 101 mg/dL vs 83 mg/dL, p = 0.027), while there were no significant changes in glucose profile. In addition, we did not record any adrenal crises during follow-up; however, unsatisfactory disease control was the primary reason for discontinuation in 11/17 patients after a median duration of 26 months.</p><p><strong>Conclusions: </strong>While DR-HC can replicate the circadian rhythm of cortisol secretion, it offers suboptimal hormone control in CAH patients despite increasing HC equivalent doses. Nonetheless, DR-HC is a safe treatment that could improve the metabolic profile compared to conventional GCs. However, DR-HC may be unsuitable in cases requiring tight regulation of androgen excess.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"329-338"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144555523","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-classical congenital adrenal hyperplasia: current insights into clinical implications, diagnosis and treatment.","authors":"Paola Loli, Sara Menotti, Luigi di Filippo, Andrea Giustina","doi":"10.1007/s12020-025-04341-5","DOIUrl":"10.1007/s12020-025-04341-5","url":null,"abstract":"<p><strong>Background: </strong>Non-classical congenital adrenal hyperplasia (NCCAH) is a milder variant of 21-hydroxylase deficiency, an autosomal recessive disorder leading to impaired cortisol biosynthesis and compensatory adrenal androgen excess. Unlike the classical form, NCCAH typically presents later in life, often mimicking polycystic ovary syndrome (PCOS) in women and remaining largely asymptomatic in men.</p><p><strong>Methods: </strong>A literature search was conducted in MEDLINE (PubMed) in October 2024 using the term \"Non-Classical Congenital Adrenal Hyperplasia\" in combination with keywords related to sex differences, diagnosis, genetics, clinical presentation, metabolic risk, fertility, and treatment.</p><p><strong>Results: </strong>NCCAH prevalence varies significantly by ethnicity, ranging from 3.7% in Ashkenazi Jews to 0.1% in other Caucasian populations. In females, NCCAH often presents with symptoms of androgen excess, including hirsutism (60-80%), acne (30%), androgenic alopecia (2-8%), menstrual irregularities (56%), and, in rare cases, clitoromegaly (6-20%). Many affected women are misdiagnosed with PCOS, delaying appropriate management. In males, NCCAH remains largely asymptomatic and it is often diagnosed only through familial genetic screening or incidentally in fertility evaluations. A small percentage exhibit premature pubarche, tall stature, gynecomastia, or testicular adrenal rest tumors (TARTs). Regarding metabolic risks, conflicting evidence suggests that NCCAH may be associated with mild insulin resistance, obesity, and an increased cardiovascular risk, particularly in women. Bone mineral density (BMD) appears normal or even increased in NCCAH, possibly due to prolonged androgen exposure, though fracture risk remains uncertain. Treatment is generally reserved for symptomatic patients, with glucocorticoids, antiandrogens, and oral contraceptives being the main therapeutic approaches. While glucocorticoids reduce adrenal androgen excess, they pose risks of adrenal suppression and metabolic complications, making alternative therapies such as cyproterone acetate, spironolactone, and estrogen-progestin combinations preferable in many cases. Fertility outcomes in NCCAH are variable. Women may experience infertility due to androgen excess, dysovulation, and progesterone-mediated implantation issues. In males, fertility does not appear significantly impaired.</p><p><strong>Conclusions: </strong>NCCAH remains an underdiagnosed and poorly characterized condition, particularly in males. Further research is needed to establish standardized diagnostic thresholds, assess long-term metabolic risks, and optimize treatment strategies.</p>","PeriodicalId":49211,"journal":{"name":"Endocrine","volume":" ","pages":"1-16"},"PeriodicalIF":2.9,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692115","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}